Species

ocular motility disorders

Summary

Summary: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)

..We provide evidence for this based on changes in eye-head coordination dependant on the context and expectation of presented visual stimuli, as well as from changes in eye-head coordination caused by frontal lobe dysfunction...

..The saccadic rate was related to positive UHR symptoms. Our findings indicate that abnormalities in SPEM are already present in UHR patients, prior to a first psychotic episode. These abnormalities occur only in the saccadic system...

Schizophrenia-related neuregulin-1 single-nucleotide polymorphisms lead to deficient smooth eye pursuit in a large sample of young men

H A BurgessDepartment of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6058, USAGenes Brain Behav 8:500-11. 2009

..Moreover, we show that twitch twice mutants exhibit normal visual acuity but display defects in horizontal eye movements, suggesting a specific and critical role for twitch twice/robo3 in sensory-guided behavior...

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

..One patient had the association of JBTS and NPHP with chronic renal failure. This is the first report of AHI1 mutations causing JBTS associated with NPHP, confirming the clinical and genetic heterogeneity of NPHP...

..This study extends the molecular spectrum of the ROBO3 gene and the geographic origin of patients with ROBO3 gene mutations, and underlines the homogeneity of the motor ocular syndrome whatever type of mutation is encountered...

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

..We screened for CHN1 mutations in patients with various congenital ocular motility disorders.

Therapeutic considerations for eye movement disorders

A StraubeDepartment of Neurology, University of Munich, Munich, GermanyDev Ophthalmol 40:175-92. 2007

..Finally, anticonvulsants like carbamazepine are the drugs of choice for disorders involving a nerve-blood vessel contact that induces symptoms of vestibular paroxysmia or superior oblique myokymia...

..Implant-orbital disproportion can produce a pseudo-Brown's syndrome. Surgeons are encouraged to perform forced duction testing at the time of glaucoma implant placement to detect and prevent this complication...

A randomized clinical trial of treatments for convergence insufficiency in children

..The purpose of this study was to investigate the care process for Cl by surveying eyecare professionals regarding the most common treatment modalities used by both optometrists and ophthalmologists across the United States...

..We report a case of Joubert syndrome diagnosed prenatally using fetal MRI. We also discuss the etiology of Joubert syndrome in view of the recent genetic advances and murine models of cerebellar dysgenesis...

..This rare disease is of particular interest because the absence, or at least reduction, of crossing of the ascending lemniscal and descending corticospinal tracts in the medulla predicts abnormal ipsilateral sensory and motor systems...

Disruption of smooth pursuit eye movements in cirrhosis: relationship to hepatic encephalopathy and its treatment

Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing

..Esotropia and reduced saccadic velocities have been reported in the dominant form of MC. We report two cases in which orbital magnetic resonance imaging (MRI) imaging showed extraocular muscle hypertrophy...

..To review the role played by the medial longitudinal fasciculus (MLF) in ocular motor physiology and to characterize a number of syndromes that result from lesions in this eloquent brainstem tract system...

Teaching NeuroImage: one-and-a-half syndrome

Patricio S EspinosaDepartment of Neurology, University of Kentucky College of Medicine, Lexington, KY, USANeurology 70:e20. 2008

..The prevalence of square wave jerks is high in children and adolescents. This finding may be a feature of the less mature brain, and may reflect an inability to suppress unwanted supranuclear triggers for saccades...

..To the best of our knowledge, there is only one partially similar case in the literature with coexistence of congenitally fibrotic superior rectus and superior oblique muscles, and the features of that case differ from those of our case...

..The excessive accumulation of copper in the brain induces an extrapyramidal syndrome. Oculomotor abnormalities occur in most extrapyramidal disorders but have rarely been studied in Wilson's disease...

..There are only a few reports on the treatment of this problem in the literature. Patients with Parinaud's syndrome may also have retraction nystagmus and convergence on attempted upgaze that further complicates the treatment...

Research Grants46

..causal relationship between the organization of MyHC isoforms and the behavior of these atypical muscles and to establish a rationale for alternative surgical and pharmacological therapies of ocular motility disorders.

..efforts of clinicians and computational scientists to simulate the pathophysiology of several ocular motility disorders. One uniqueness of the present approach has been to attribute the dysfunction to specific cell membrane ..

..dystrophy and myasthenia gravis, the results of these investigations will be important for other disorders of extraocular muscle, such as strabismus, genetic ocular motility disorders, congenital myasthenic syndromes, and blepharospasm.

..An overall knowledge of the properties and regulation of the EOM sarcolemma will be important for understanding and treating ocular motility disorders in myasthenia gravis, congenital fibrosis of EOM, and strabismus.

..We plan to use the preliminary data collected from this grant support to guide our full-scale search for phenotypic markers specifically associated with the liability for deficit schizophrenia and subsequent molecular genetic studies. ..

..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..

..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..

..Trainees will consist of optometry students who have just completed either their first or second professional years, and have done well academically (3.5 gpa or better). All will have an undergraduate degree, generally in the sciences. ..

..Acquire the training, mentoring and experience necessary to conduct independent, funded clinical research in ophthalmologic and neurological disorders Obtain a Masters Degree in Public Health/Clinical Investigator track ..

..In addition, by understanding the mechanisms retarding ocular growth, it may be possible to modulate the excessive ocular growth which occurs in certain pathological conditions such as retinopathy of prematurity. ..

..Deciphering the genetic mechanisms of prefrontal dopamine dysfunction in schizophrenia would advance our understanding of the pathophysiology of schizophrenia and may help identify novel treatments. [unreadable] [unreadable] [unreadable]..

..In this regard, it will be especially important to refine stimulus conditions to the point where measurement error is reduced as much as is practically feasible, a goal toward which we will aspire with our proposed research. ..

..S. The Study Chair is located at the [unreadable] Pennsylvania College of Optometry and the national Data Coordinating Center is located at The Ohio State University Optometry Coordinating Center. [unreadable] [unreadable]..